Version: 8.1.0Date: Fri Apr 18 2025
Gene
ABCG8
- Species
- Homo sapiens
- Symbol
- ABCG8
- Name
- ATP binding cassette subfamily G member 8
- Synonyms
- ATP-binding cassette sub-family G member 8
- ATP-binding cassette, sub-family G (WHITE), member 8
- Biotype
- protein coding gene
- Automated Description
- Enables ATPase-coupled transmembrane transporter activity and protein heterodimerization activity. Contributes to ATP binding activity; ATP hydrolysis activity; and cholesterol transfer activity. Involved in cholesterol efflux; cholesterol homeostasis; and negative regulation of intestinal lipid absorption. Located in apical plasma membrane. Part of ATP-binding activity cassette (ABC) transporter complex and receptor complex. Implicated in arteriosclerosis; familial hyperlipidemia; obesity; and sitosterolemia.
- RGD Description
- The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR48041
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
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Sequence Feature Viewer
- Genome location
- Chr2:43831942...43882988 + (51.05 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.